Spherocytosis is a descriptive terminology of red blood cells, which has a spherical shape rather than the normal biconcave shape of the normal red blood cells. Hereditary spherocytosis (HS) is an inherited blood disorder, which has large heterogenic presentation with both autosomal dominant inheritance and less frequently in an autosomal recessive mode of inheritance. Saudi Arabia is known to have high consanguineous marriage, which makes the population on a higher risk of developing different inherited disorders including HS. We are reporting a novel pathological mutation in a child with HS which caused him to have hemolytic anemia since the age of 2 years. To our best knowledge, this is the first time this new mutation is reported in the medical literatures.
Key words: Hereditary Spherocytosis, Mutation, Hemolytic Anemia, Consanguinity, Saudi Arabia.
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